Linked Data
ClinVar Variation Id:
294392
dbSNP Id:
rs147600006
ExAC:
1:19212051 G / C
gnomAD v2:
1-19212051-G-C
gnomAD v3:
1-18885557-G-C
gnomAD v4:
1-18885557-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.18885557G>C , CM000663.2:g.18885557G>C | GRCh38 |
| NC_000001.10:g.19212051G>C , CM000663.1:g.19212051G>C | GRCh37 |
| NC_000001.9:g.19084638G>C | NCBI36 |
| NG_012283.1:g.22243C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375341.8:c.369C>G MANE Select | ENSP00000364490.3:p.Asp123Glu | |
| ENST00000290597.9:c.369C>G | ENSP00000290597.5:p.Asp123Glu | |
| ENST00000375341.7:c.369C>G | ENSP00000364490.3:p.Asp123Glu | |
| ENST00000432718.1:c.321C>G | ENSP00000393209.1:p.Asp107Glu | |
| ENST00000454547.1:n.63C>G | ||
| ENST00000494072.3:c.1306C>G | ||
| ENST00000538309.5:c.189C>G | ENSP00000442988.1:p.Asp63Glu | |
| ENST00000538839.5:c.369C>G | ENSP00000446071.1:p.Asp123Glu | |
| NM_001161504.1:c.189C>G | NP_001154976.1:p.Asp63Glu | |
| NM_003748.3:c.369C>G | NP_003739.2:p.Asp123Glu | |
| NM_170726.2:c.369C>G | NP_733844.1:p.Asp123Glu | |
| XM_011542352.1:c.369C>G | XP_011540654.1:p.Asp123Glu | |
| XM_011542353.1:c.369C>G | XP_011540655.1:p.Asp123Glu | |
| XR_946786.1:n.426C>G | ||
| NM_001319218.1:c.369C>G | NP_001306147.1:p.Asp123Glu | |
| XR_001737510.1:n.426C>G | ||
| NM_003748.4:c.369C>G MANE Select | NP_003739.2:p.Asp123Glu | |
| NM_170726.3:c.369C>G | NP_733844.1:p.Asp123Glu | |
| NM_001161504.2:c.189C>G | NP_001154976.1:p.Asp63Glu | |
| NM_001319218.2:c.369C>G | NP_001306147.1:p.Asp123Glu |